Document Detail

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
MedLine Citation:
PMID:  21484825     Owner:  NLM     Status:  MEDLINE    
INTRODUCTION: Pompe disease (glycogen storage disease type II, acid maltase deficiency) is caused by deficiency of lysosomal acid α-glucosidase (GAA). A few late-onset patients have been reported with skin fibroblast GAA activity levels of <2%.
METHODS: We measured GAA activity in skin fibroblasts from 101 patients with late-onset Pompe disease. Whenever possible, we performed Western blot analysis and correlated the results with GAA activity and GAA gene mutations.
RESULTS: Thirteen patients (13%) had skin fibroblast GAA activity of <1% of normal. Although there was wide genetic heterogeneity, none of these patients carried the common late-onset mutation c.-32-13T > G. We performed Western blot on 11 patients with <1% GAA activity. All produced GAA protein that was at lower levels and/or was abnormally processed.
DISCUSSION: There is no common mutation associated with <1% GAA activity in late-onset Pompe disease patients. Most patients produce unprocessed forms of GAA protein compared with patients with higher GAA activity.
Deeksha S Bali; Adviye A Tolun; Jennifer L Goldstein; Jian Dai; Priya S Kishnani
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Muscle & nerve     Volume:  43     ISSN:  1097-4598     ISO Abbreviation:  Muscle Nerve     Publication Date:  2011 May 
Date Detail:
Created Date:  2011-04-12     Completed Date:  2011-06-07     Revised Date:  2014-04-08    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  United States    
Other Details:
Languages:  eng     Pagination:  665-70     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Wiley Periodicals, Inc.
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MeSH Terms
Age of Onset
Blotting, Western / methods
Enzyme Activation / genetics
Glycogen Storage Disease Type II / enzymology*,  epidemiology,  genetics*
Middle Aged
Mutation / genetics
Protein Modification, Translational / genetics*
Young Adult
alpha-Glucosidases / genetics*,  metabolism*
Reg. No./Substance:
EC protein, human; EC

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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